ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) (rs45517131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523170 SCV000617347 likely pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the TSC2 gene. The L264P variant has been reported in the TSC2 LOVD database as probably pathogenic (TSC2 LOVD). However, additional clinical information was not provided and functional characterization of the variant was not completed. The L264P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L264P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2011; Au et al., 2007). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Tuberous sclerosis database (TSC2) RCV000043188 SCV000066989 not provided Tuberous sclerosis syndrome no assertion provided curation

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